Atlas of Genetics and Cytogenetics in Oncology and Haematology

Home   Genes   Leukemias   Solid Tumours   Cancer-Prone   Deep Insight   Case Reports   Journals  Portal   Teaching   
X Y 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 20 21 22 NA

ACTA2 (actin, alpha 2, smooth muscle, aorta)

Identity

Other namesAAT6
ACTSA
MYMY5
HGNC (Hugo) ACTA2
LocusID (NCBI) 59
Location 10q23.31
Location_base_pair Starts at 90694831 and ends at 90751147 bp from pter ( according to hg19-Feb_2009)
Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 

External links

Nomenclature
HGNC (Hugo)ACTA2   130
Cards
Entrez_Gene (NCBI)ACTA2  59  actin, alpha 2, smooth muscle, aorta
GeneCards (Weizmann)ACTA2
Ensembl hg19 (Hinxton)ENSG00000107796 [Gene_View]  chr10:90694831-90751147 [Contig_View]  ACTA2 [Vega]
Ensembl hg38 (Hinxton)ENSG00000107796 [Gene_View]  chr10:90694831-90751147 [Contig_View]  ACTA2 [Vega]
ICGC DataPortalENSG00000107796
cBioPortalACTA2
AceView (NCBI)ACTA2
Genatlas (Paris)ACTA2
WikiGenes59
SOURCE (Princeton)ACTA2
Genomic and cartography
GoldenPath hg19 (UCSC)ACTA2  -     chr10:90694831-90751147 -  10q23.31   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)ACTA2  -     10q23.31   [Description]    (hg38-Dec_2013)
EnsemblACTA2 - 10q23.31 [CytoView hg19]  ACTA2 - 10q23.31 [CytoView hg38]
Mapping of homologs : NCBIACTA2 [Mapview hg19]  ACTA2 [Mapview hg38]
OMIM102620   611788   613834   614042   
Gene and transcription
Genbank (Entrez)AK300664 AK313294 AY692464 BC017554 BC093052
RefSeq transcript (Entrez)NM_001141945 NM_001613
RefSeq genomic (Entrez)AC_000142 NC_000010 NC_018921 NG_011541 NT_030059 NW_001838005 NW_004929376
Consensus coding sequences : CCDS (NCBI)ACTA2
Cluster EST : UnigeneHs.500483 [ NCBI ]
CGAP (NCI)Hs.500483
Alternative Splicing : Fast-db (Paris)GSHG0004235
Alternative Splicing GalleryENSG00000107796
Gene ExpressionACTA2 [ NCBI-GEO ]     ACTA2 [ SEEK ]   ACTA2 [ MEM ]
SOURCE (Princeton)Expression in : [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
Protein : pattern, domain, 3D structure
UniProt/SwissProtP62736 (Uniprot)
NextProtP62736  [Medical]
With graphics : InterProP62736
Splice isoforms : SwissVarP62736 (Swissvar)
Domaine pattern : Prosite (Expaxy)ACTINS_1 (PS00406)    ACTINS_2 (PS00432)    ACTINS_ACT_LIKE (PS01132)   
Domains : Interpro (EBI)Actin-related    Actin/actin-like_CS    Actin_CS   
Related proteins : CluSTrP62736
Domain families : Pfam (Sanger)Actin (PF00022)   
Domain families : Pfam (NCBI)pfam00022   
Domain families : Smart (EMBL)ACTIN (SM00268)  
DMDM Disease mutations59
Blocks (Seattle)P62736
Human Protein AtlasENSG00000107796
Peptide AtlasP62736
HPRD00031
IPIIPI00008603   IPI00984879   IPI01018712   IPI00645534   
Protein Interaction databases
DIP (DOE-UCLA)P62736
IntAct (EBI)P62736
FunCoupENSG00000107796
BioGRIDACTA2
IntegromeDBACTA2
STRING (EMBL)ACTA2
Ontologies - Pathways
QuickGOP62736
Ontology : AmiGOATP binding  extracellular space  cytoplasm  cytosol  muscle contraction  regulation of blood pressure  response to virus  vascular smooth muscle contraction  actin cytoskeleton  protein kinase binding  smooth muscle contractile fiber  protein complex  glomerular mesangial cell development  
Ontology : EGO-EBIATP binding  extracellular space  cytoplasm  cytosol  muscle contraction  regulation of blood pressure  response to virus  vascular smooth muscle contraction  actin cytoskeleton  protein kinase binding  smooth muscle contractile fiber  protein complex  glomerular mesangial cell development  
Pathways : KEGGVascular smooth muscle contraction   
Protein Interaction DatabaseACTA2
DoCM (Curated mutations)ACTA2
Wikipedia pathwaysACTA2
Gene fusion - rearrangements
Polymorphisms : SNP, variants
NCBI Variation ViewerACTA2 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)ACTA2
dbVarACTA2
ClinVarACTA2
1000_GenomesACTA2 
Exome Variant ServerACTA2
SNP (GeneSNP Utah)ACTA2
SNP : HGBaseACTA2
Genetic variants : HAPMAPACTA2
Genomic VariantsACTA2  ACTA2 [DGVbeta]
Mutations
ICGC Data PortalENSG00000107796 
Somatic Mutations in Cancer : COSMICACTA2 
CONAN: Copy Number AnalysisACTA2 
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
LOVD (Leiden Open Variation Database)Connective tissue disorders (VUMC Amsterdam)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] 
Diseases
DECIPHER (Syndromes)10:90694831-90751147
Mutations and Diseases : HGMDACTA2
OMIM102620    611788    613834    614042   
MedgenACTA2
NextProtP62736 [Medical]
GENETestsACTA2
Disease Genetic AssociationACTA2
Huge Navigator ACTA2 [HugePedia]  ACTA2 [HugeCancerGEM]
snp3D : Map Gene to Disease59
DGIdb (Drug Gene Interaction db)ACTA2
General knowledge
Homologs : HomoloGeneACTA2
Homology/Alignments : Family Browser (UCSC)ACTA2
Phylogenetic Trees/Animal Genes : TreeFamACTA2
Chemical/Protein Interactions : CTD59
Chemical/Pharm GKB GenePA24456
Clinical trialACTA2
Cancer Resource (Charite)ENSG00000107796
Other databases
Probes
Litterature
PubMed171 Pubmed reference(s) in Entrez
CoreMineACTA2
GoPubMedACTA2
iHOPACTA2
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

Contributor(s)

Written09-2002Dessen P, Le Minor S
Updated12-2014Dessen P

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Sat Dec 20 20:00:13 CET 2014
Home   Genes   Leukemias   Solid Tumours   Cancer-Prone   Deep Insight   Case Reports   Journals  Portal   Teaching   

For comments and suggestions or contributions, please contact us

jlhuret@AtlasGeneticsOncology.org.